| Variant ID | 15806 |
|---|---|
| Entrez Gene ID | 1740 |
| Gene | DLG2 (GeneCards) |
| Location | hg19 11:85071342-85071342
hg38 11:85360298-85360298 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000011.9:g.85071342 T>C (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.017 |
| CADD Raw score (version 1.3) | 0.059045 (Deleterious) |
| FATHMM raw prediction score | 0.11882 (Tolerated) |
| Deleterious probability by DeFine | 0.2869 (Neutral) |
| Entrez Gene ID | 1740 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DLG2 (GeneCards) |
| Number of variants in DLG2 in this database | 36 (view all the variants) |
| Full name | discs large MAGUK scaffold protein 2 |
| Band | 11q14.1 |
| Other IDs | Vega: OTTHUMG00000134309 OMIM: 603583 HGNC: HGNC:2901 Ensembl: ENSG00000150672 |
| Other names | PSD93, PSD-93, PPP1R58, chapsyn-110 |
| Summary | This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family. The encoded protein forms a heterodimer with a related family member that may interact at postsynaptic sites to form a multimeric scaffold for the clustering of receptors, ion channels, and associated signaling proteins. Multiple transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described, but their full-length nature is not known. [provided by RefSeq, Dec 2008] |
| Individual ID | 29217584.16 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |